在20号内含子的剪接捐赠位点上,一个G变A的单点突变预测会导致mRNA的剪接异常。编码蛋白在胚胎组织的 Western blot 检测中未发现,这表明这个等位基因是无功能的。(来源:J:201508)
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A G-to-A single point mutation in the intron 20 splice donor site is predicted to result in a splicing defect in the mRNA. The encoded protein was not detected on Western blot of embryonic tissue, suggesting that this allele is null. (J:201508)